ClinVar Miner

Submissions for variant NM_002303.6(LEPR):c.3417A>G (p.Ala1139=)

gnomAD frequency: 0.00257  dbSNP: rs61781316
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030139 SCV000052794 likely benign Obesity 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Illumina Laboratory Services,Illumina RCV000310429 SCV000358835 uncertain significance Obesity due to leptin receptor gene deficiency 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services,Illumina RCV000365066 SCV000358836 uncertain significance Monogenic Non-Syndromic Obesity 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000880973 SCV001024108 benign not provided 2021-11-10 criteria provided, single submitter clinical testing
GeneDx RCV000880973 SCV001829277 likely benign not provided 2020-07-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV001818191 SCV002070401 benign not specified 2021-06-25 criteria provided, single submitter clinical testing

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